FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2005389791> ?p ?o ?g. }

• W2005389791 endingPage "1073" @default.
• W2005389791 startingPage "1068" @default.
• W2005389791 abstract "Huntington disease is a dominantly inherited, neurodegenerative disorder, usually with onset in the fourth to fifth decade of life but in a small proportion of patients before the age of 20 years. The early-onset form, juvenile Huntington disease, is clinically different from that of more common adult-onset forms and includes cognitive decline, parkinsonism, myoclonus, and seizures. We report a case of a boy with juvenile Huntington disease with a very early age at disease onset (3 years). The suspected clinical diagnosis was confirmed by DNA analysis, which revealed (CAG) n expansion into the range characteristic of juvenile Huntington disease (95 repeats). The clinical course of the disease was typical for the juvenile form of Huntington disease, but the diagnosis was not so obvious because there was no history of any neurodegenerative disorder in the family. The child died at the age of 11 years. The detailed neuropathologic investigations performed postmortem showed the characteristic features of Huntington disease. As the patient's de novo mutation was very unlikely to occur, genetic counseling and the possibility of predictive testing were proposed to the family. Indirect molecular data indicate the familial character of the disease, with strong anticipation of transmission." @default.
• W2005389791 created "2016-06-24" @default.
• W2005389791 creator A5012419059 @default.
• W2005389791 creator A5021382015 @default.
• W2005389791 creator A5066049667 @default.
• W2005389791 creator A5088482799 @default.
• W2005389791 date "2006-12-01" @default.
• W2005389791 modified "2023-10-17" @default.
• W2005389791 title "Huntington Disease in a 9-Year-Old Boy: Clinical Course and Neuropathologic Examination" @default.
• W2005389791 cites W1541248516 @default.
• W2005389791 cites W1964328933 @default.
• W2005389791 cites W1970732501 @default.
• W2005389791 cites W1973191842 @default.
• W2005389791 cites W2010373677 @default.
• W2005389791 cites W2014592580 @default.
• W2005389791 cites W2036073147 @default.
• W2005389791 cites W2039844262 @default.
• W2005389791 cites W2041193153 @default.
• W2005389791 cites W2057631378 @default.
• W2005389791 cites W2058376851 @default.
• W2005389791 cites W2060191653 @default.
• W2005389791 cites W2066792880 @default.
• W2005389791 cites W2082056883 @default.
• W2005389791 cites W2092405990 @default.
• W2005389791 cites W2098123284 @default.
• W2005389791 cites W2107856491 @default.
• W2005389791 cites W2121642311 @default.
• W2005389791 cites W2134401364 @default.
• W2005389791 cites W2138236521 @default.
• W2005389791 doi "https://doi.org/10.1177/7010.2006.00244" @default.
• W2005389791 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17156701" @default.
• W2005389791 hasPublicationYear "2006" @default.
• W2005389791 type Work @default.
• W2005389791 sameAs 2005389791 @default.
• W2005389791 citedByCount "21" @default.
• W2005389791 countsByYear W20053897912012 @default.
• W2005389791 countsByYear W20053897912013 @default.
• W2005389791 countsByYear W20053897912015 @default.
• W2005389791 countsByYear W20053897912016 @default.
• W2005389791 countsByYear W20053897912017 @default.
• W2005389791 countsByYear W20053897912018 @default.
• W2005389791 countsByYear W20053897912020 @default.
• W2005389791 countsByYear W20053897912022 @default.
• W2005389791 crossrefType "journal-article" @default.
• W2005389791 hasAuthorship W2005389791A5012419059 @default.
• W2005389791 hasAuthorship W2005389791A5021382015 @default.
• W2005389791 hasAuthorship W2005389791A5066049667 @default.
• W2005389791 hasAuthorship W2005389791A5088482799 @default.
• W2005389791 hasConcept C104317684 @default.
• W2005389791 hasConcept C115961737 @default.
• W2005389791 hasConcept C118552586 @default.
• W2005389791 hasConcept C126322002 @default.
• W2005389791 hasConcept C142724271 @default.
• W2005389791 hasConcept C154945302 @default.
• W2005389791 hasConcept C15744967 @default.
• W2005389791 hasConcept C166252455 @default.
• W2005389791 hasConcept C176777502 @default.
• W2005389791 hasConcept C180754005 @default.
• W2005389791 hasConcept C187212893 @default.
• W2005389791 hasConcept C2776525014 @default.
• W2005389791 hasConcept C2776538686 @default.
• W2005389791 hasConcept C2777427615 @default.
• W2005389791 hasConcept C2777767895 @default.
• W2005389791 hasConcept C2778559928 @default.
• W2005389791 hasConcept C2779134260 @default.
• W2005389791 hasConcept C2780647506 @default.
• W2005389791 hasConcept C2781179581 @default.
• W2005389791 hasConcept C41008148 @default.
• W2005389791 hasConcept C54355233 @default.
• W2005389791 hasConcept C71924100 @default.
• W2005389791 hasConcept C86803240 @default.
• W2005389791 hasConceptScore W2005389791C104317684 @default.
• W2005389791 hasConceptScore W2005389791C115961737 @default.
• W2005389791 hasConceptScore W2005389791C118552586 @default.
• W2005389791 hasConceptScore W2005389791C126322002 @default.
• W2005389791 hasConceptScore W2005389791C142724271 @default.
• W2005389791 hasConceptScore W2005389791C154945302 @default.
• W2005389791 hasConceptScore W2005389791C15744967 @default.
• W2005389791 hasConceptScore W2005389791C166252455 @default.
• W2005389791 hasConceptScore W2005389791C176777502 @default.
• W2005389791 hasConceptScore W2005389791C180754005 @default.
• W2005389791 hasConceptScore W2005389791C187212893 @default.
• W2005389791 hasConceptScore W2005389791C2776525014 @default.
• W2005389791 hasConceptScore W2005389791C2776538686 @default.
• W2005389791 hasConceptScore W2005389791C2777427615 @default.
• W2005389791 hasConceptScore W2005389791C2777767895 @default.
• W2005389791 hasConceptScore W2005389791C2778559928 @default.
• W2005389791 hasConceptScore W2005389791C2779134260 @default.
• W2005389791 hasConceptScore W2005389791C2780647506 @default.
• W2005389791 hasConceptScore W2005389791C2781179581 @default.
• W2005389791 hasConceptScore W2005389791C41008148 @default.
• W2005389791 hasConceptScore W2005389791C54355233 @default.
• W2005389791 hasConceptScore W2005389791C71924100 @default.
• W2005389791 hasConceptScore W2005389791C86803240 @default.
• W2005389791 hasIssue "12" @default.
• W2005389791 hasLocation W20053897911 @default.
• W2005389791 hasLocation W20053897912 @default.
• W2005389791 hasOpenAccess W2005389791 @default.

• next